Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P281Splc
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PAH

NM_000277.3:p.P281Splc

Associated Papers

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.

Yan Y et al.

Metabolic Brain Disease, 2019

[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].

Tang X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."